Canonical Allele Identifier: CA413935315

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101362621A>C , CM000685.2:g.101362621A>C	GRCh38
NC_000023.10:g.100617609A>C , CM000685.1:g.100617609A>C	GRCh37
NC_000023.9:g.100504265A>C	NCBI36
NG_009616.1:g.28604T>G , LRG_128:g.28604T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000061.3:c.460T>G MANE Select	NP_000052.1:p.Cys154Gly
ENST00000308731.8:c.460T>G MANE Select	ENSP00000308176.8:p.Cys154Gly
NM_000061.2:c.460T>G , LRG_128t1:c.460T>G	NP_000052.1:p.Cys154Gly
NM_001287344.1:c.562T>G	NP_001274273.1:p.Cys188Gly
NM_001287344.2:c.562T>G	NP_001274273.1:p.Cys188Gly
NM_001287345.1:c.460T>G	NP_001274274.1:p.Cys154Gly
NM_001287345.2:c.460T>G	NP_001274274.1:p.Cys154Gly
ENST00000308731.7:c.460T>G	ENSP00000308176.7:p.Cys154Gly
ENST00000372880.5:c.460T>G	ENSP00000361971.1:p.Cys154Gly
ENST00000464006.1:n.195T>G
ENST00000464006.2:n.240T>G
ENST00000478995.2:n.620T>G
ENST00000488970.2:n.618T>G
ENST00000618050.4:c.460T>G	ENSP00000479125.1:p.Cys154Gly
ENST00000621635.4:c.562T>G	ENSP00000483570.1:p.Cys188Gly
ENST00000695614.1:c.460T>G	ENSP00000512053.1:p.Cys154Gly
ENST00000695615.1:c.460T>G	ENSP00000512054.1:p.Cys154Gly
ENST00000695616.1:c.*305T>G	ENSP00000512055.1:n.*305T>G
ENST00000695617.1:c.457T>G	ENSP00000512056.1:p.Cys153Gly
ENST00000695618.1:c.*209T>G	ENSP00000512058.1:n.*209T>G
ENST00000695619.1:c.*305T>G	ENSP00000512059.1:n.*305T>G
ENST00000695620.1:c.*305T>G	ENSP00000512060.1:n.*305T>G
ENST00000695621.1:c.460T>G	ENSP00000512061.1:p.Cys154Gly
ENST00000695622.1:c.460T>G	ENSP00000512062.1:p.Cys154Gly
ENST00000695623.1:c.460T>G	ENSP00000512063.1:p.Cys154Gly
ENST00000695625.1:c.460T>G	ENSP00000512064.1:p.Cys154Gly
ENST00000703407.1:c.460T>G	ENSP00000512057.1:p.Cys154Gly